Variant report

Variant	rs11513492
Chromosome Location	chr12:30481317-30481318
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10843690	0.83[EUR][1000 genomes]
rs11050794	0.81[EUR][1000 genomes]
rs11050808	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11050823	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11050826	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11050828	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11608277	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11612317	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11613370	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11613642	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11614392	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12424369	0.83[EUR][1000 genomes]
rs12815231	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12823889	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12826074	0.96[EUR][1000 genomes]
rs1429628	0.83[EUR][1000 genomes]
rs1652182	0.99[EUR][1000 genomes]
rs1731489	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1896909	0.98[EUR][1000 genomes]
rs2010880	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs34300913	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs35004835	0.81[EUR][1000 genomes]
rs354131	1.00[ASN][1000 genomes]
rs354136	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs354151	1.00[ASN][1000 genomes]
rs61920761	0.83[EUR][1000 genomes]
rs6487894	0.83[EUR][1000 genomes]
rs6487895	0.81[EUR][1000 genomes]
rs6487896	0.83[EUR][1000 genomes]
rs725063	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7295282	0.83[EUR][1000 genomes]
rs7296820	0.83[EUR][1000 genomes]
rs7298770	0.83[EUR][1000 genomes]
rs7303893	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7304070	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7313186	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7314209	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7955178	0.83[EUR][1000 genomes]
rs7964943	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7972984	0.82[EUR][1000 genomes]
rs7978437	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs891318	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832360	chr12:30393329-30555693	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv517916	chr12:30454845-30485611	Enhancers Bivalent Enhancer ZNF genes & repeats Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	esv3343291	chr12:30455597-30992837	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
4	nsv511500	chr12:30476188-30484684	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
5	nsv522000	chr12:30476188-30485611	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
6	esv3485185	chr12:30477285-30482183	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
7	esv3490343	chr12:30477535-30482033	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	inside rSNPs	diseases
8	esv3490344	chr12:30477535-30482033	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
9	esv3485251	chr12:30477877-30481400	ZNF genes & repeats Weak transcription	n/a	n/a	inside rSNPs	diseases
10	esv1841050	chr12:30478334-30484684	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases
11	esv1833779	chr12:30478371-30485611	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
12	esv1834263	chr12:30478371-30485611	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
13	nsv558012	chr12:30478371-30485611	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
14	nsv558013	chr12:30478371-30491382	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
15	nsv558014	chr12:30478371-30492671	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
16	nsv558018	chr12:30478533-30485611	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
17	nsv558021	chr12:30478735-30485611	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	inside rSNPs	diseases
18	nsv558022	chr12:30478904-30485611	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	inside rSNPs	diseases
19	nsv558024	chr12:30479039-30485611	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
20	nsv558025	chr12:30479167-30485611	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
21	nsv558027	chr12:30479358-30485611	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
22	nsv558028	chr12:30479535-30485611	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:30480600-30482800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr12:30481000-30482400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell

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